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Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. [electronic resource] by
- Hand, Collette K
- Devon, Rebecca S
- Gros-Louis, Francois
- Rochefort, Daniel
- Khoris, Jawad
- Meininger, Vincent
- Bouchard, Jean-Pierre
- Camu, William
- Hayden, Michael R
- Rouleau, Guy A
Producer: 20040107
In:
Archives of neurology vol. 60
Availability: No items available.
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8.
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NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH. [electronic resource] by
- Szijan, Irene
- Rochefort, Daniel
- Bruder, Carl
- Surace, Ezequiel
- Machiavelli, Gloria
- Dalamon, Viviana
- Cotignola, Javier
- Ferreiro, Veronica
- Campero, Alvaro
- Basso, Armando
- Dumanski, Jan P
- Rouleau, Guy A
Producer: 20030530
In:
Neuromolecular medicine vol. 3
Availability: No items available.
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9.
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HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. [electronic resource] by
- Salin-Cantegrel, Adèle
- Shekarabi, Masoud
- Holbert, Sébastien
- Dion, Patrick
- Rochefort, Daniel
- Laganière, Janet
- Dacal, Sandra
- Hince, Pascale
- Karemera, Liliane
- Gaspar, Claudia
- Lapointe, Jean-Yves
- Rouleau, Guy A
Producer: 20080929
In:
Human molecular genetics vol. 17
Availability: No items available.
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10.
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C9orf72 repeat expansions are a rare genetic cause of parkinsonism. [electronic resource] by
- Lesage, Suzanne
- Le Ber, Isabelle
- Condroyer, Christel
- Broussolle, Emmanuel
- Gabelle, Audrey
- Thobois, Stéphane
- Pasquier, Florence
- Mondon, Karl
- Dion, Patrick A
- Rochefort, Daniel
- Rouleau, Guy A
- Dürr, Alexandra
- Brice, Alexis
Producer: 20130410
In:
Brain : a journal of neurology vol. 136
Availability: No items available.
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11.
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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. [electronic resource] by
- Kabashi, Edor
- Lin, Li
- Tradewell, Miranda L
- Dion, Patrick A
- Bercier, Valérie
- Bourgouin, Patrick
- Rochefort, Daniel
- Bel Hadj, Samar
- Durham, Heather D
- Vande Velde, Christine
- Rouleau, Guy A
- Drapeau, Pierre
Producer: 20100329
In:
Human molecular genetics vol. 19
Availability: No items available.
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12.
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Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. [electronic resource] by
- Shekarabi, Masoud
- Girard, Nathalie
- Rivière, Jean-Baptiste
- Dion, Patrick
- Houle, Martin
- Toulouse, André
- Lafrenière, Ronald G
- Vercauteren, Freya
- Hince, Pascale
- Laganiere, Janet
- Rochefort, Daniel
- Faivre, Laurence
- Samuels, Mark
- Rouleau, Guy A
Producer: 20080925
In:
The Journal of clinical investigation vol. 118
Availability: No items available.
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13.
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Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. [electronic resource] by
- Salin-Cantegrel, Adèle
- Rivière, Jean-Baptiste
- Shekarabi, Masoud
- Rasheed, Sarah
- Dacal, Sandra
- Laganière, Janet
- Gaudet, Rébecca
- Rochefort, Daniel
- Lesca, Gaëtan
- Gaspar, Claudia
- Dion, Patrick A
- Lapointe, Jean-Yves
- Rouleau, Guy A
Producer: 20120511
In:
The Journal of biological chemistry vol. 286
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14.
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Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. [electronic resource] by
- Dion, Patrick
- Shanmugam, Vijayalakshmi
- Gaspar, Claudia
- Messaed, Christiane
- Meijer, Inge
- Toulouse, André
- Laganiere, Janet
- Roussel, Julie
- Rochefort, Daniel
- Laganiere, Simon
- Allen, Carol
- Karpati, George
- Bouchard, Jean-Pierre
- Brais, Bernard
- Rouleau, Guy A
Producer: 20050517
In:
Neurobiology of disease vol. 18
Availability: No items available.
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15.
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Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models. [electronic resource] by
- Stochmanski, Shawn J
- Therrien, Martine
- Laganière, Janet
- Rochefort, Daniel
- Laurent, Sandra
- Karemera, Liliane
- Gaudet, Rebecca
- Vyboh, Kishanda
- Van Meyel, Don J
- Di Cristo, Graziella
- Dion, Patrick A
- Gaspar, Claudia
- Rouleau, Guy A
Producer: 20120913
In:
Human molecular genetics vol. 21
Availability: No items available.
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16.
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Investigation of C9orf72 repeat expansions in Parkinson's disease. [electronic resource] by
- Daoud, Hussein
- Noreau, Anne
- Rochefort, Daniel
- Paquin-Lanthier, Gabriel
- Gauthier, Maude Turcotte
- Provencher, Pierre
- Pourcher, Emmanuelle
- Dupré, Nicolas
- Chouinard, Sylvain
- Jodoin, Nicolas
- Soland, Valérie
- Fon, Edward A
- Dion, Patrick A
- Rouleau, Guy A
Producer: 20131211
In:
Neurobiology of aging vol. 34
Availability: No items available.
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17.
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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. [electronic resource] by
- Jouan, Loubna
- Ouled Amar Bencheikh, Bouchra
- Daoud, Hussein
- Dionne-Laporte, Alexandre
- Dobrzeniecka, Sylvia
- Spiegelman, Dan
- Rochefort, Daniel
- Hince, Pascale
- Szuto, Anna
- Lassonde, Maryse
- Barbelanne, Marine
- Tsang, William Y
- Dion, Patrick A
- Théoret, Hugo
- Rouleau, Guy A
Producer: 20161213
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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18.
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Mutations in DCC cause congenital mirror movements. [electronic resource] by
- Srour, Myriam
- Rivière, Jean-Baptiste
- Pham, Jessica M T
- Dubé, Marie-Pierre
- Girard, Simon
- Morin, Steves
- Dion, Patrick A
- Asselin, Géraldine
- Rochefort, Daniel
- Hince, Pascale
- Diab, Sabrina
- Sharafaddinzadeh, Naser
- Chouinard, Sylvain
- Théoret, Hugo
- Charron, Frédéric
- Rouleau, Guy A
Producer: 20100511
In:
Science (New York, N.Y.) vol. 328
Availability: No items available.
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19.
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Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. [electronic resource] by
- Shekarabi, Masoud
- Moldrich, Randal X
- Rasheed, Sarah
- Salin-Cantegrel, Adéle
- Laganière, Janet
- Rochefort, Daniel
- Hince, Pascale
- Huot, Karine
- Gaudet, Rébecca
- Kurniawan, Nyoman
- Sotocinal, Susana G
- Ritchie, Jennifer
- Dion, Patrick A
- Mogil, Jeffrey S
- Richards, Linda J
- Rouleau, Guy A
Producer: 20120501
In:
The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 32
Availability: No items available.
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20.
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RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population. [electronic resource] by
- Zhou, Sirui
- Ambalavanan, Amirthagowri
- Rochefort, Daniel
- Xie, Pingxing
- Bourassa, Cynthia V
- Hince, Pascale
- Dionne-Laporte, Alexandre
- Spiegelman, Dan
- Gan-Or, Ziv
- Mirarchi, Cathy
- Zaharieva, Vessela
- Dupré, Nicolas
- Kobayashi, Hatasu
- Hitomi, Toshiaki
- Harada, Kouji
- Koizumi, Akio
- Xiong, Lan
- Dion, Patrick A
- Rouleau, Guy A
Producer: 20170519
In:
American journal of human genetics vol. 99
Availability: No items available.
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